FAM87B
FAM87B: A Comprehensive Overview
Description
FAM87B (Family with sequence similarity 87, member B) is a protein-coding gene located on the long arm of chromosome 11 (11q13.4). It encodes a protein known as the FAM87B protein.
The FAM87B protein plays a crucial role in various cellular processes, including protein degradation and vesicle trafficking. It is involved in the assembly of the ESCRT (Endosomal Sorting Complexes Required for Transport) complex, which facilitates the sorting and transport of proteins and lipids from endosomes to lysosomes for degradation.
Associated Diseases
Mutations in the FAM87B gene have been associated with several diseases, including:
- Charcot-Marie-Tooth disease type 2E (CMT2E): A rare inherited peripheral neuropathy characterized by progressive muscle weakness and atrophy, particularly in the lower limbs.
- Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17): A neurodegenerative disorder that affects both the brain and spinal cord, leading to cognitive decline, movement disorders, and behavioral changes.
- Amyotrophic lateral sclerosis (ALS): A progressive neurodegenerative disease that affects motor neurons, leading to muscle weakness, atrophy, and eventual paralysis.
Did you Know ?
According to a study published in the American Journal of Human Genetics, mutations in the FAM87B gene account for approximately 1-2% of cases of CMT2E.
